Clinical Trial: A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Prospective Evaluation of Infants and Children With Congenital Ichthyosis

Brief Summary: This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.

Detailed Summary: The investigators hypothesize that early complications and comorbidities in infants with congenital ichthyosis are genotype-dependent, such that clinical standards of care can be tailored to the genetic diagnoses. Definition of clinical groups based upon phenotype may also provide useful predictors of outcome. Information gained from this study will provide the basis for the development of rational standards of care for the future management of children with congenital ichthyosis.
Sponsor: Yale University

Current Primary Outcome:

• Weight [ Time Frame: 36 Months ]
  To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Weight of the child will primarily be used to make this determination.
• Length (Height) [ Time Frame: 36 Months ]
  To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Length of the child will primarily be used to make this determination.

Original Primary Outcome:

• Weight [ Time Frame: 36 Months ]
  To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Weight and length of the child will primarily be used to make this determination.
• Length (Height) [ Time Frame: 36 Months ]
  To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Weight and length of the child will primarily be used to make this determination.

Current Secondary Outcome:

• Weight [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months ]
  To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. Weight of the child will be used to characterize growth over the course of the 3 year follow up time.
• Length (Height) [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months ]
  To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. Length of the child will be used to characterize growth over the course of the 3 year follow up time.
• Electrolyte Disturbance [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 12 months, 24 months, 36 months ]
  Measurements of electrolytes, including calcium, phosphate, magnesium, BUN and creatinine values will be used to evaluate the incidence, timing, and severity of electrolyte disturbances and the management of these disturbances in the neonatal period in relation to phenotypic group and to genotype. This outcome will be captured as a 'yes/no' for any or all of the above.
• Systemic Infections [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months ]
  The incidence, severity timing, and causative organisms of systemic infections during neonatal hospital stays will be reviewed in relation to management, including skin care practices and nursing procedures (e.g., open bed vs. humidified isolette).
• Complications of Congenital Ichthyosis [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months ]
  Clinical severity will be rated using a standardized instrument. The evolution of skin phenotype will be documented via serial standardized photography. Transepidermal Water Loss (TEWL) will be measured in some sites.
• Developmental Delays [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months ]
  To determine the incidence and severity of development delays in relation to genotype, a development history will be obtained at each follow-up evaluation, including information regarding relevant interventions such as physical or occupational therapy. Physical examination at each visit will assess range of motion of digital and major limb joints. This outcome will be captured as a 'yes/no' for any or all of the above.

Original Secondary Outcome:

• Weight [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months ]
  To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. Weight and length of the child will be used to characterize growth over the course of the 3 year follow up time.
• Length (Height) [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months ]
  To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. Weight and length of the child will be used to characterize growth over the course of the 3 year follow up time.
• Electrolyte Disturbance [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 12 months, 24 months, 36 months ]
  Measurements of electrolytes, including calcium, phosphate, magnesium, BUN and creatinine values will be used to evaluate the incidence, timing, and severity of electrolyte disturbances and the management of these disturbances in the neonatal period in relation to phenotypic group and to genotype.
• Systemic Infections [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months ]
  The incidence, severity timing, and causative organisms of systemic infections during neonatal hospital stays will be reviewed in relation to management, including skin care practices and nursing procedures (e.g., open bed vs. humidified isolette).
• Complications of Congenital Ichthyosis [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months ]
  Clinical severity will be rated using a standardized instrument. The evolution of skin phenotype will be documented via serial standardized photography. Transepidermal Water Loss (TEWL) will be measured in some sites.
• Developmental Delays [ Time Frame: Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months ]
  To determine the incidence and severity of development delays in relation to genotype, a development history will be obtained at each follow-up evaluation, including information regarding relevant interventions such as physical or occupational therapy. Physical examination at each visit will assess range of motion of digital and major limb joints.

Dates:
Date Received: November 16, 2015
Date Started: June 2015
Date Completion: December 2022
Last Updated: September 1, 2016
Last Verified: September 2016